Delineation of Dermatan 4-O-sulfotransferase 1 Deficient Ehlers-Danlos Syndrome: Observation of Two Additional Patients and Comprehensive Review of 20 Reported Patients
Delineation of Dermatan 4-O-sulfotransferase 1 Deficient Ehlers-Danlos Syndrome: Observation of Two Additional Patients and Comprehensive Review of 20 Reported Patients
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DOI：
10.1002/ajmg.a.34115
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发表时间：
2011-08-01
影响因子：
2
通讯作者：
Kosho, Tomoki
中科院分区：
文献类型：
--
作者：
Shimizu, Kenji;Okamoto, Nobuhiko;Kosho, Tomoki
最近发现CHST 14中的功能丧失突变，皮肤素4-O-磺基转移酶1（D4 ST 1）缺陷，引起内收拇指-马蹄内翻足综合征（ATCS; OMIM-#601776）和一种新类型的Ehlers-Danlos综合征（EDS），称为EDS Kosho型（EDSKT）[Miyake et al.，2010]，以及一个没有赖氨酰羟化酶缺乏症的脊柱后凸型EDS（EDS VIB）子集，被称为肌肉挛缩EDS（MCEDS）[Malfait et al.，2010年]。缺乏详细的临床信息，从童年后期到成年的ATCS和缺乏详细的临床信息，从出生到幼儿期的EDSKT和MCEDS，很难确定这些疾病是否会是不同的临床实体或一个单一的临床实体与变量的表达和不同的表现取决于患者的年龄在诊断。我们提出了详细的临床研究结果和课程的两个额外的无关的患者，年龄2岁和6岁，与EDSKT与20例报告的D4 ST 1缺乏症，这支持的概念，这些疾病构成了一个全面的审查EDS的临床可识别的形式。这种疾病，最好称为D4 ST 1缺陷型EDS，其特征在于进行性多系统脆弱性相关表现（关节脱位和畸形、皮肤过度伸展、瘀伤和脆弱;复发性大皮下血肿和其他心脏瓣膜、呼吸系统、胃肠道和眼科并发症）以及各种畸形（不同的颅面特征、多种先天性挛缩和心血管、胃肠道、肾脏、眼睛和中枢神经系统的先天性缺陷）。(C)2011 Wiley-Liss，Inc.
Loss-of-function mutations in CHST14, dermatan 4-O-sulfotransferase 1 (D4ST1) deficiency, have recently been found to cause adducted thumb-clubfoot syndrome (ATCS; OMIM-#601776) and a new type of Ehlers-Danlos syndrome (EDS) coined as EDS Kosho Type (EDSKT) [Miyake et al., 2010], as well as a subset of kyphoscoliosis type EDS without lysyl hydroxylase deficiency (EDS VIB) coined as musculocontractural EDS (MCEDS) [Malfait et al., 2010]. Lack of detailed clinical information from later childhood to adulthood in ATCS and lack of detailed clinical information from birth to early childhood in EDSKT and MCEDS have made it difficult to determine whether these disorders would be distinct clinical entities or a single clinical entity with variable expressions and with different presentations depending on the patients' ages at diagnosis. We present detailed clinical findings and courses of two additional unrelated patients, aged 2 years and 6 years, with EDSKT with a comprehensive review of 20 reported patients with D4ST1 deficiency, which supports the notion that these disorders constitute a clinically recognizable form of EDS. The disorder, preferably termed D4ST1-deficient EDS, is characterized by progressive multisystem fragility-related manifestations (joint dislocations and deformities, skin hyperextensibility, bruisability, and fragility; recurrent large subcutaneous hematomas, and other cardiac valvular, respiratory, gastrointestinal, and ophthalmological complications) resulting from impaired assembly of collagen fibrils, as well as various malformations (distinct craniofacial features, multiple congenital contractures, and congenital defects in cardiovascular, gastrointestinal, renal, ocular, and central nervous systems) resulting from inborn errors of development. (C) 2011 Wiley-Liss, Inc.